A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470377



Internal ID15040713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18412129..18414084hg38UCSC Ensembl
Innerchr12:18565063..18567018hg19UCSC Ensembl
Innerchr12:18456330..18458285hg18UCSC Ensembl
Innerchr12:18456330..18458285hg16UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381956
hg191956
hg181956
hg161956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438194
Supporting Variants
SamplesNA19161
Known GenesPIK3C2G
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470377
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer